Click here to close now.


News Feed Item

Personal Genome Diagnostics' Circulating Tumor DNA Technology Highlighted In Landmark Study

--New Publication in Science Translational Medicine Confirms Utility of Cell-Free Circulating Tumor DNA (ctDNA) for Cancer Drug Development and Diagnosis--

BALTIMORE, Md., Feb. 19, 2014 /PRNewswire/ -- Personal Genome Diagnostics Inc. (PGDx), a provider of advanced cancer genome analysis and testing services, reported that its proprietary technology was used in a major new study being published today in the journal Science Translational Medicine. The study, "Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies," assessed the utility of cell-free circulating tumor DNA (ctDNA) for cancer detection and monitoring across multiple patient populations and applications. The authors conclude that ctDNA is a broadly applicable, sensitive and specific biomarker that can be used for a variety of clinical and research purposes in patients with different types of cancer.1

Some of the findings reported today were analyzed using PGDx's proprietary PARE technology, an ultrasensitive technique that enables whole genome identification of changes in tumor-specific ctDNA. The new findings are consistent with previous publications by PGDx researchers and further validate the company's work using ctDNA-based analyses for cancer research and drug development.

"This landmark study further validates the utility of circulating DNA as a biomarker in cancer therapeutic research and treatment," noted Mark Sausen, PhD, a lead author of the new study and Director of R&D at PGDx. Dr. Sausen was one of the first researchers to use genome-wide analyses of ctDNA to identify newly-acquired genetic alterations associated with resistance to targeted therapies.

Dr. Sausen added, "At PGDx, we have experienced a surge of interest in ctDNA-based analyses and are now using our PARE and related technologies to routinely perform genetic analyses on ctDNA, thereby obviating the need for invasive biopsies. Genomic analyses conducted using ctDNA produce a great deal of information, including detection of structural genomic alterations and point mutations, which makes them very valuable for the development of targeted cancer therapies."

Unlike other approaches, which can detect point mutations in ctDNA, PARE (Personalized Analysis of Rearranged Ends) can also detect structural changes, including the genomic amplifications and rearrangements that are critical for guiding cancer treatment. PGDx has licensed exclusive rights to the PARE technology from Johns Hopkins University.

The study in Science Translational Medicine addressed several topics related to ctDNA. The first assessed the extent to which ctDNA could be detected in different cancer populations at various stages of disease. It found ctDNA was detectable in many, but not all types of advanced solid tumor cancers, as well as in many individuals with earlier-stage localized tumors. The study also found that cell-free ctDNA often was detectable in patients who lacked circulating tumor cells, providing further validation of PGDx's ctDNA approach.

The new study also found that ctDNA could be used to identify known and novel genetic mutations associated with drug resistance in patients with colorectal cancer. PGDx has previously published research showing that its PARE ctDNA approach2,3, which can detect structural alterations in ctDNA with high sensitivity and specificity, was able to identify novel mechanisms of acquired drug resistance from the blood of a colorectal cancer patient being treated with targeted therapy. These analyses enabled the new genetic alteration to be identified before any clinical signs of drug resistance were evident, providing early warning that a change in therapy was needed.

Antony Newton, Chief Commercial Officer of PGDx, added, "This new study confirms the value of our expertise in the application of cell-free circulating tumor DNA technologies. We are already offering these technologies for both prospective and retrospective clinical trial applications and expect this new study will accelerate the growing interest in the use of ctDNA for drug development."

Along with Dr. Sausen, co-authors of the new study include PGDx co-founders and Johns Hopkins cancer researchers Dr. Luis Diaz and Dr. Victor Velculescu.

1. Science Translational Medicine. 2014 February 19; 6 (224): Detection of circulating tumor DNA in early- and late-stage human malignancies. C. Bettegowda, M. Sausen, R. J. Leary, I. Kinde, Y. Wang, N. Agrawal, B. R. Bartlett, H. Wang, B. Luber, R. M. Alani, E. S. Antonarakis, N. S. Azad, A. Bardelli, H. Brem, J. L. Cameron, C. C. Lee, L. A. Fecher, G. L. Gallia, P. Gibbs, D. Le, R. L. Giuntoli, M. Goggins, M. D. Hogarty, M. Holdhoff, S.-M. Hong, Y. Jiao, H. H. Juhl, J. J. Kim, G. Siravegna, D. A. Laheru, C. Lauricella, M. Lim, E. J. Lipson, S. K. N. Marie, G. J. Netto, K. S. Oliner, A. Olivi, L. Olsson, G. J. Riggins, A. Sartore-Bianchi, K. Schmidt, l.-M. Shih, S. M. Oba-Shinjo, S. Siena, D. Theodorescu, J. Tie, T. T. Harkins, S. Veronese, T.-L. Wang, J. D. Weingart, C. L. Wolfgang, L. D. Wood, D. Xing, R. H. Hruban, J. Wu, P. J. Allen, C. M. Schmidt, M. A. Choti, V. E. Velculescu, K. W. Kinzler, B. Vogelstein, N. Papadopoulos, L. A. Diaz Jr.

2. Oncotarget. 2013 October; 4(10): 1856–1857. PMCID: PMC3858570. Insights into therapeutic resistance from whole-genome analyses of circulating tumor DNA. Luis A. Diaz, Jr., Mark Sausen, George A. Fisher, and Victor E. Velculescu.

3. Cancer Discovery. 2013 June; 3 (6): 658-73. doi: 10.1158/2159-8290.CD-12-0558. Amplification of the MET receptor drives resistance to anti-EGFR therapies in colorectal cancer. Bardelli A, Corso S, Bertotti A, Hobor S, Valtorta E, Siravegna G, Sartore-Bianchi A, Scala E, Cassingena A, Zecchin D, Apicella M, Migliardi G, Galimi F, Lauricella C, Zanon C, Perera T, Veronese S, Corti G, Amatu A, Gambacorta M, Diaz LA Jr., Sausen M, Velculescu VE, Comoglio P, Trusolino L, Di Nicolantonio F, Giordano S, Siena S.

About Personal Genome Diagnostics
Personal Genome Diagnostics (PGDx) provides advanced cancer genome analyses to oncology researchers, drug developers, clinicians and patients. The company uses advanced genomic methods and its deep expertise in cancer biology to identify and characterize the unique genomic alterations in tumors.  PGDx's proprietary methods for genome sequencing and analysis are complemented by its extensive experience in cancer genomics and clinical oncology. The founders of PGDx, Luis Diaz, MD, and Victor Velculescu, MD, PhD, are internationally recognized leaders in cancer genomics at Johns Hopkins University who have extensive experience in the practical application of advanced genomic technologies to drug development and clinical practice. PGDx's CLIA-certified facility provides personalized cancer genome analyses to patients and their physicians. For more information, visit


Personal Genome Diagnostics


Antony Newton

BLL Partners, LLC

Chief Commercial Officer 

Barbara Lindheim

410 849-9189

212 584-2276

[email protected] 

[email protected]

SOURCE Personal Genome Diagnostics Inc.

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
For almost two decades, businesses have discovered great opportunities to engage with customers and even expand revenue through digital systems, including web and mobile applications. Yet, even now, the conversation between the business and the technologists that deliver these systems is strained, in large part due to misaligned objectives. In his session at DevOps Summit, James Urquhart, Senior Vice President of Performance Analytics at SOASTA, Inc., will discuss how measuring user outcomes –...
Clearly the way forward is to move to cloud be it bare metal, VMs or containers. One aspect of the current public clouds that is slowing this cloud migration is cloud lock-in. Every cloud vendor is trying to make it very difficult to move out once a customer has chosen their cloud. In his session at 17th Cloud Expo, Naveen Nimmu, CEO of Clouber, Inc., will advocate that making the inter-cloud migration as simple as changing airlines would help the entire industry to quickly adopt the cloud wit...
While testing is often ignored when it comes to DevOps - it could be the most important aspect of achieving true DevOps success. Without rethinking automated testing from the ground-up, the entire DevOps productivity gain cannot be realized. Large tech companies build their own rapid test automation that runs in minutes across functional, performance, security and other tests. In his session at DevOps Summit, Kevin Surace, CEO of Appvance, will discuss how we learn from these real-world succe...
SYS-CON Events announced today that VividCortex, the monitoring solution for the modern data system, will exhibit at the 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. The database is the heart of most applications, but it’s also the part that’s hardest to scale, monitor, and optimize even as it’s growing 50% year over year. VividCortex is the first unified suite of database monitoring tools specifically desi...
Apps and devices shouldn't stop working when there's limited or no network connectivity. Learn how to bring data stored in a cloud database to the edge of the network (and back again) whenever an Internet connection is available. In his session at 17th Cloud Expo, Bradley Holt, Developer Advocate at IBM Cloud Data Services, will demonstrate techniques for replicating cloud databases with devices in order to build offline-first mobile or Internet of Things (IoT) apps that can provide a better, ...
Interested in leveraging automation technologies and a cloud architecture to make developers more productive? Learn how PaaS can benefit your organization to help you streamline your application development, allow you to use existing infrastructure and improve operational efficiencies. Begin charting your path to PaaS with OpenShift Enterprise.
“All our customers are looking at the cloud ecosystem as an important part of their overall product strategy. Some see it evolve as a multi-cloud / hybrid cloud strategy, while others are embracing all forms of cloud offerings like PaaS, IaaS and SaaS in their solutions,” noted Suhas Joshi, Vice President – Technology, at Harbinger Group, in this exclusive Q&A with Cloud Expo Conference Chair Roger Strukhoff.
SYS-CON Events announced today that Agema Systems will exhibit at the 17th International Cloud Expo®, which will take place on November 3-5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. Agema Systems is the leading provider of critical white-box rack solutions to data centers through the major integrators and value added distribution channels.
SYS-CON Events announced today that Cloud Raxak has been named “Media & Session Sponsor” of SYS-CON's 17th Cloud Expo, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. Raxak Protect automates security compliance across private and public clouds. Using the SaaS tool or managed service, developers can deploy cloud apps quickly, cost-effectively, and without error.
Organizations already struggle with the simple collection of data resulting from the proliferation of IoT, lacking the right infrastructure to manage it. They can't only rely on the cloud to collect and utilize this data because many applications still require dedicated infrastructure for security, redundancy, performance, etc. In his session at 17th Cloud Expo, Emil Sayegh, CEO of Codero Hosting, will discuss how in order to resolve the inherent issues, companies need to combine dedicated a...
DevOps is gaining traction in the federal government – and for good reasons. Heightened user expectations are pushing IT organizations to accelerate application development and support more innovation. At the same time, budgetary constraints require that agencies find ways to decrease the cost of developing, maintaining, and running applications. IT now faces a daunting task: do more and react faster than ever before – all with fewer resources.
SYS-CON Events announced today that ProfitBricks, the provider of painless cloud infrastructure, will exhibit at SYS-CON's 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. ProfitBricks is the IaaS provider that offers a painless cloud experience for all IT users, with no learning curve. ProfitBricks boasts flexible cloud servers and networking, an integrated Data Center Designer tool for visual control over the...
SYS-CON Events announced today that Key Information Systems, Inc. (KeyInfo), a leading cloud and infrastructure provider offering integrated solutions to enterprises, will exhibit at the 17th International Cloud Expo®, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. Key Information Systems is a leading regional systems integrator with world-class compute, storage and networking solutions and professional services for the most advanced softwa...
Mobile messaging has been a popular communication channel for more than 20 years. Finnish engineer Matti Makkonen invented the idea for SMS (Short Message Service) in 1984, making his vision a reality on December 3, 1992 by sending the first message ("Happy Christmas") from a PC to a cell phone. Since then, the technology has evolved immensely, from both a technology standpoint, and in our everyday uses for it. Originally used for person-to-person (P2P) communication, i.e., Sally sends a text...
SYS-CON Events announced today that IBM Cloud Data Services has been named “Bronze Sponsor” of SYS-CON's 17th Cloud Expo, which will take place on November 3–5, 2015, at the Santa Clara Convention Center in Santa Clara, CA. IBM Cloud Data Services offers a portfolio of integrated, best-of-breed cloud data services for developers focused on mobile computing and analytics use cases.